LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002113)
Patient ID 50
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Sampieri et al. (2006) J Hum Genet 51: 209
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2197G>A
cDNA change c.137+1G>A
Type substitution
Exon 01_in
RNA change altered splicing
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_01250
originated_in -

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/? Unknown g.2197G>A c.137+1G>A substitution 01_in altered splicing - - splice RB1_01250 -

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